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    Klhdc4 kelch domain containing 4 [ Mus musculus (house mouse) ]

    Gene ID: 234825, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Klhdc4provided by MGI
    Official Full Name
    kelch domain containing 4provided by MGI
    Primary source
    MGI:MGI:2384569
    See related
    Ensembl:ENSMUSG00000040263 AllianceGenome:MGI:2384569
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    G430025P05Rik
    Summary
    Is expressed in cerebral cortex intermediate zone; cerebral cortex subventricular zone; and cerebral cortex ventricular layer. Orthologous to human KLHDC4 (kelch domain containing 4). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 12.5), CNS E14 (RPKM 9.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Klhdc4 in Genome Data Viewer
    Location:
    8 E1; 8 70.76 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (122523047..122556322, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (121796308..121829583, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 46065 Neighboring gene junctophilin 3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:124353433-124353616 Neighboring gene STARR-positive B cell enhancer ABC_E1774 Neighboring gene predicted gene, 24283 Neighboring gene STARR-seq mESC enhancer starr_22928 Neighboring gene predicted gene, 26812 Neighboring gene STARR-seq mESC enhancer starr_22929

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Wnt regulates amino acid transporter Slc7a5 and so constrains the integrated stress response in mouse embryos. Poncet N, et al. EMBO Rep, 2020 Jan 7. PMID 31789450, Free PMC Article
    2. Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Bedogni F, et al. Front Mol Neurosci, 2021. PMID 34321999, Free PMC Article
    3. A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Hansen J, et al. Proc Natl Acad Sci U S A, 2003 Aug 19. PMID 12904583, Free PMC Article
    4. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article
    5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC19372

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    kelch domain-containing protein 4

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_145605.2 → NP_663580.2  kelch domain-containing protein 4

      See identical proteins and their annotated locations for NP_663580.2

      Status: VALIDATED

      Source sequence(s)
      AC121975, AK161674, AV374981, BY086869
      Consensus CDS
      CCDS22729.1
      UniProtKB/Swiss-Prot
      Q8CIK0, Q921I2
      UniProtKB/TrEMBL
      G3X961
      Related
      ENSMUSP00000043439.11, ENSMUST00000045884.17
      Conserved Domains (4) summary
      sd00038
      Location:64 → 115
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:431 → 480
      Kelch_1; Kelch motif
      pfam13415
      Location:75 → 127
      Kelch_3; Galactose oxidase, central domain
      pfam13854
      Location:174 → 216
      Kelch_5; Kelch motif

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      122523047..122556322 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011248370.3 → XP_011246672.1  kelch domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      Q8CIK0, Q921I2
      Conserved Domains (3) summary
      PLN02193
      Location:77 → 314
      PLN02193; nitrile-specifier protein
      sd00038
      Location:64 → 115
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:431 → 480
      Kelch_1; Kelch motif

    2. XM_006530947.4 → XP_006531010.1  kelch domain-containing protein 4 isoform X2

      UniProtKB/TrEMBL
      G3UZ63
      Conserved Domains (3) summary
      PLN02193
      Location:135 → 270
      PLN02193; nitrile-specifier protein
      sd00038
      Location:133 → 180
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:387 → 436
      Kelch_1; Kelch motif

    3. XM_006530948.5 → XP_006531011.1  kelch domain-containing protein 4 isoform X3

      See identical proteins and their annotated locations for XP_006531011.1

      UniProtKB/TrEMBL
      G3UZG5
      Related
      ENSMUSP00000134487.2, ENSMUST00000174192.2
      Conserved Domains (3) summary
      PLN02193
      Location:15 → 222
      PLN02193; nitrile-specifier protein
      sd00038
      Location:27 → 82
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:339 → 388
      Kelch_1; Kelch motif

    4. XM_006530950.5 → XP_006531013.1  kelch domain-containing protein 4 isoform X4

      Conserved Domains (3) summary
      PLN02193
      Location:47 → 182
      PLN02193; nitrile-specifier protein
      sd00038
      Location:45 → 92
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:299 → 348
      Kelch_1; Kelch motif

    5. XM_030243519.2 → XP_030099379.1  kelch domain-containing protein 4 isoform X3

      UniProtKB/TrEMBL
      G3UZG5
      Conserved Domains (3) summary
      PLN02193
      Location:15 → 222
      PLN02193; nitrile-specifier protein
      sd00038
      Location:27 → 82
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:339 → 388
      Kelch_1; Kelch motif

    6. XM_017312755.3 → XP_017168244.1  kelch domain-containing protein 4 isoform X5

      Conserved Domains (3) summary
      PLN02193
      Location:39 → 174
      PLN02193; nitrile-specifier protein
      sd00038
      Location:37 → 84
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:291 → 340
      Kelch_1; Kelch motif

    7. XM_006530952.5 → XP_006531015.1  kelch domain-containing protein 4 isoform X6

      Conserved Domains (3) summary
      PLN02193
      Location:4 → 79
      PLN02193; nitrile-specifier protein
      sd00038
      Location:2 → 54
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:196 → 245
      Kelch_1; Kelch motif
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q921I2.2 GenPept UniProtKB/Swiss-Prot:Q921I2

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